ClinVar Genomic variation as it relates to human health
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
Variation ID: 133887 Accession: VCV000133887.34
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 22q12.1 22: 28734664 (GRCh38) [ NCBI UCSC ] 22: 29130652 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 9, 2014 May 1, 2024 Apr 4, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007194.4:c.58C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009125.1:p.Gln20Ter nonsense NM_001005735.2:c.58C>T NP_001005735.1:p.Gln20Ter nonsense NM_001257387.2:c.-720C>T 5 prime UTR NM_001349956.2:c.58C>T NP_001336885.1:p.Gln20Ter nonsense NM_145862.2:c.58C>T NP_665861.1:p.Gln20Ter nonsense NC_000022.11:g.28734664G>A NC_000022.10:g.29130652G>A NG_008150.2:g.12203C>T LRG_302:g.12203C>T LRG_302t1:c.58C>T LRG_302p1:p.Gln20Ter - Protein change
- Q20*
- Other names
- -
- Canonical SPDI
- NC_000022.11:28734663:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00000
Exome Aggregation Consortium (ExAC) 0.00012
The Genome Aggregation Database (gnomAD), exomes 0.00014
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3983 | 4037 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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not provided (1) |
no classification provided
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Sep 19, 2013 | RCV000120552.4 | |
Pathogenic/Likely pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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May 26, 2022 | RCV000255024.13 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Jan 31, 2024 | RCV000458969.15 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Nov 20, 2023 | RCV000579628.12 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV001356492.3 | |
Pathogenic (1) |
no assertion criteria provided
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Sep 12, 2021 | RCV001640105.3 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Apr 4, 2024 | RCV003992188.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jan 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004217710.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Mar 08, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002019290.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Mar 16, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV001186719.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.Q20* pathogenic mutation (also known as c.58C>T), located in coding exon 1 of the CHEK2 gene, results from a C to T substitution at … (more)
The p.Q20* pathogenic mutation (also known as c.58C>T), located in coding exon 1 of the CHEK2 gene, results from a C to T substitution at nucleotide position 58. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This alteration was detected in conjunction with a pathogenic BRCA2 mutation in an individual diagnosed with breast cancer at ages 37 and 61 and ovarian cancer at age 56 (Foley SB et al. EBioMedicine. 2015 Jan;2:74-81). This alteration has also been observed in breast cancer cohorts (Baloch AH et al. Asian Pac. J. Cancer Prev. 2016;17:1089-92; Sun J et al. Clin Cancer Res 2017 Oct;23(20):6113-6119). In one case-control study, this alteration was not identified in 13087 breast cancer cases but was seen in 1/5488 control individuals in the United Kingdom; of note, study subjects were under the age of 55 years (Decker B et al. J Med Genet 2017 11;54(11):732-741). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Likely pathogenic
(May 26, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV002774274.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
Comment:
This nonsense variant is predicted to cause the premature termination of CHEK2 protein synthesis. In addition, it has been reported in individuals with breast and/or … (more)
This nonsense variant is predicted to cause the premature termination of CHEK2 protein synthesis. In addition, it has been reported in individuals with breast and/or ovarian cancer in the published literature (PMIDs: 26023681 (2015), 27510020 (2016), 28724667 (2017), 32658311 (2021), and 32885271 (2021)). Based on the available information, this variant is classified as likely pathogenic. (less)
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Likely pathogenic
(Feb 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000322541.10
First in ClinVar: Oct 09, 2016 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Observed in individuals with a personal or family history of CHEK2-related cancers in published literature (Foley 2015, Baloch 2016, Scarpa 2017, Sun 2017, Fan 2018, Akcay 2020); This variant is associated with the following publications: (PMID: 26023681, 28724667, 28199314, 27039729, 24728327, 27510020, 29356917, 28779002, 29922827, 28553140, 32658311) (less)
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Pathogenic
(Mar 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004020230.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
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Likely pathogenic
(Nov 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000684663.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 2 of the CHEK2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 2 of the CHEK2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast cancer (PMID: 27039729, 28724667, 32658311, 32885271), an individual affected with ovarian cancer (PMID: 32885271) and an unaffected individual (PMID: 33471991; Leiden Open Variation Database DB-ID CHEK2_000005). This variant has also been observed in an individual affected with breast and ovarian cancer, who carried a pathogenic variant in the BRCA2 gene (PMID: 26023681). This variant is found at a high frequency in the South Asian population (0.1145%, 35/30544 chromosomes) by the Genome Aggregation Database (gnomAD), suggesting its penetrance may be reduced relative to other pathogenic CHEK2 alleles. Loss of CHEK2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic (less)
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000550527.10
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln20*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln20*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant is present in population databases (rs536907995, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 26023681, 27039729, 27510020, 28724667). ClinVar contains an entry for this variant (Variation ID: 133887). For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Apr 04, 2024)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome 2
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004809421.1
First in ClinVar: Apr 15, 2024 Last updated: Apr 15, 2024 |
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002518704.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Pathogenic
(Dec 21, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002537618.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The CHEK2 c.58C>T (p.Q20X) variant has been reported in at least 5 individuals with breast cancer and ovarian carcinoma (PMID: 26023681, 27039729, 28779002, 28724667, 32658311, … (more)
The CHEK2 c.58C>T (p.Q20X) variant has been reported in at least 5 individuals with breast cancer and ovarian carcinoma (PMID: 26023681, 27039729, 28779002, 28724667, 32658311, 32885271). This nonsense variant creates a premature stop codon at residue 20 of the CHEK2 protein. At this location, this is predicted to cause nonsense-mediated decay and result in an absent protein (loss of function). Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant is reported in 35/30544 chromosomes in South Asian population according to the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID 133887). Based on the current evidence available, this variant is interpreted as pathogenic. (less)
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Pathogenic
(Jun 05, 2017)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000677811.2
First in ClinVar: Apr 17, 2017 Last updated: Dec 24, 2022 |
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Pathogenic
(Sep 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004034964.1
First in ClinVar: Sep 16, 2023 Last updated: Sep 16, 2023 |
Comment:
A pathogenic mutation was detected in the CHEK2 gene (c.58C>T).This sequence change creates a premature translational stop signal (p.Gln20*) in the CHEK2 gene. This variant … (more)
A pathogenic mutation was detected in the CHEK2 gene (c.58C>T).This sequence change creates a premature translational stop signal (p.Gln20*) in the CHEK2 gene. This variant is expected to result in an absent or non-functional protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant Not observed at a significant frequency in large population cohorts (gnomAD). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 26023681, 27039729, 27510020, 28724667). ClinVar contains an entry for this variant (Variation ID: 133887) classified as pathogenic with no conflict . For these reasons, this variant has been classified as Pathogenic. (less)
Age: 70-79 years
Sex: female
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001980298.1 First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Familial ovarian cancer
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551678.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The CHEK2 p.Gln20* variant was identified in 2 of 858 proband chromosomes (frequency: 0.002) from individuals or families with breast or ovarian cancer (Baloch 2016, … (more)
The CHEK2 p.Gln20* variant was identified in 2 of 858 proband chromosomes (frequency: 0.002) from individuals or families with breast or ovarian cancer (Baloch 2016, Foley 2014). The variant was also identified in dbSNP (ID: rs536907995) as "With Pathogenic allele", and in ClinVar (classified as likely pathogenic by GeneDx, Color Genomics; as pathogenic by Invitae, Counsyl). The variant was not identified in the Zhejiang University database. The variant was identified in control databases in 36 of 242162 chromosomes at a frequency of 0.0002 (Genome Aggregation Database Feb 27, 2017). It was observed in the South Asian population in 36 of 30708 chromosomes (freq: 0.001); it was not observed in the African, Other, Latino, European, Ashkenazi Jewish, East Asian, and Finnish populations. The c.58C>T variant leads to a premature stop codon at position 20 which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the CHEK2 gene are an established mechanism of disease in CHEK2-associated cancers and is the type of variant expected to cause the disorder. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(Sep 12, 2021)
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no assertion criteria provided
Method: clinical testing
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Breast carcinoma
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
Accession: SCV001852742.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
Age: 50-59 years
Sex: female
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001977700.1 First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002036776.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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Pathogenic
(Oct 26, 2023)
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no assertion criteria provided
Method: clinical testing
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Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: no
Allele origin:
germline
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Biotechnology, Institute of Science, Nirma University
Accession: SCV004812175.1
First in ClinVar: Apr 15, 2024 Last updated: Apr 15, 2024 |
Comment:
The CHEK2 constitutional genetic variant leads to a premature truncation of the protein at 20 amino acids leading to loss of the domains crucial for … (more)
The CHEK2 constitutional genetic variant leads to a premature truncation of the protein at 20 amino acids leading to loss of the domains crucial for the interaction of proteins like ATM/BRCA2 which are master regulator of the DNA damage repair pathways. The outcome of this mutation could be observed in various cancers specially breast and ovarian cancers, which also corroborates with the familial breast cancer history of the proband, although the proband is yet asymptomatic. Hence, keeping in view the functional effect the variant has been classified pathogenic. (less)
Number of individuals with the variant: 1
Family history: yes
Age: 30-39 years
Sex: male
Ethnicity/Population group: Indian
Geographic origin: India
Comment on evidence:
The termination of CHEK2 protein at 20 amino acids leads to a loss of the ATM/BRCA2 interacting domains, leading to DNA damage repair instability which … (more)
The termination of CHEK2 protein at 20 amino acids leads to a loss of the ATM/BRCA2 interacting domains, leading to DNA damage repair instability which inturn could play role in cancer outcome as observed in the family history of the proband, although the proband is asymptomatic, and hence, the variant has been classified as pathogenic. The variant is a novel variant being reported for the first time in Indian ethnicity. (less)
Secondary finding: no
Method: NGS-WES of the DNA sample obtained from the proband and aligning the sequence with the GRCh38 reference genome
Testing laboratory: Org: 506170
Date variant was reported to submitter: 2023-10-26
Testing laboratory interpretation: Pathogenic
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
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ITMI
Accession: SCV000084706.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
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Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario. | Lerner-Ellis J | Journal of cancer research and clinical oncology | 2021 | PMID: 32885271 |
Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls. | Akcay IM | International journal of cancer | 2021 | PMID: 32658311 |
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
Identification and analysis of CHEK2 germline mutations in Chinese BRCA1/2-negative breast cancer patients. | Fan Z | Breast cancer research and treatment | 2018 | PMID: 29356917 |
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. | Decker B | Journal of medical genetics | 2017 | PMID: 28779002 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan. | Baloch AH | Asian Pacific journal of cancer prevention : APJCP | 2016 | PMID: 27510020 |
Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan. | Baloch AH | Asian Pacific journal of cancer prevention : APJCP | 2016 | PMID: 27039729 |
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. | Foley SB | EBioMedicine | 2015 | PMID: 26023681 |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. | Bąk A | Hereditary cancer in clinical practice | 2014 | PMID: 24713400 |
Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. | Cybulski C | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2011 | PMID: 21876083 |
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Text-mined citations for rs536907995 ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.